Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of fontanelles (HP:0011328)

Parent Node:
Large fontanelles (HP:0000239)

..Starting node
..Large posterior fontanelle (HP:0004491)

Term ID:

4491

Name:

Large posterior fontanelle

Synonym:

Large posterior fontanel

Definition:

An enlargement of the posterior fontanelle relative to age-dependent norms.

Comments:

Reference:

HP:0004491

Genes and Diseases:

Child Nodes:

Sister Nodes:

Wide anterior fontanel (HP:0000260)

Widely patent fontanelles and sutures (HP:0004492)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004491	HP:0004491	Large posterior fontanelle	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0004491	HP:0004491	Large posterior fontanelle	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0004491	HP:0004491	Large posterior fontanelle	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0004491	HP:0004491	Large posterior fontanelle	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0004491	HP:0004491	Large posterior fontanelle	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0004491	HP:0004491	Large posterior fontanelle	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0004491	HP:0004491	Large posterior fontanelle	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0004491	HP:0004491	Large posterior fontanelle	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0004491	HP:0004491	Large posterior fontanelle	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004491	HP:0004491	Large posterior fontanelle	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0004491	HP:0004491	Large posterior fontanelle	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0004491	HP:0004491	Large posterior fontanelle	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0004491	HP:0004491	Large posterior fontanelle	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0004491	HP:0004491	Large posterior fontanelle	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0004491	HP:0004491	Large posterior fontanelle	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0004491	HP:0004491	Large posterior fontanelle	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0004491	HP:0004491	Large posterior fontanelle	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0004491	HP:0004491	Large posterior fontanelle	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97

Genes (18) :DUOX2 DUOXA2 GPX4 HESX1 INTU IYD LHX3 LHX4 NAA10 PAX8 PEX26 POU1F1 PROP1 SLC5A5 TG TPO TSHB TSHR

Diseases (9) :ORPHA:95716 OMIM:250220 ORPHA:226307 OMIM:617925 OMIM:300855 OMIM:218700 OMIM:614872 ORPHA:90674 ORPHA:90673

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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